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Is there a role for routinely screening children with autism spectrum disorder for creatine deficiency syndrome?

Lv Wang1, Manya T Angley, Michael J Sorich

  • 1Sansom Institute, University of South Australia, Adelaide, South Australia, Australia.

Autism Research : Official Journal of the International Society for Autism Research
|July 1, 2010
PubMed

Insights

This study investigated if urinary creatine and guanidinoacetate levels could identify autism spectrum disorder (ASD) subtypes. Researchers found no significant differences, suggesting creatine deficiency syndrome is rare in ASD populations.

Area of Science:

  • Biochemistry
  • Neurodevelopmental Disorders
  • Metabolic Disorders

Background:

  • Autism spectrum disorder (ASD) is diagnosed behaviorally, lacking laboratory tests.
  • Creatine deficiency syndrome (CDS) shares clinical features with ASD.
  • Urinary creatine (CR) and guanidinoacetate (GAA) are potential biomarkers for CDS.

Purpose of the Study:

  • To determine if screening for urinary CR and GAA levels can identify a subgroup of children with ASD.
  • To explore the potential for dietary interventions in identified subgroups.

Main Methods:

  • Collected morning urine samples from children with and without ASD.
  • Analyzed urine samples for CR and GAA levels, normalized to creatinine.
  • Compared CR:creatinine and GAA:creatinine ratios between ASD and control groups.

Main Results:

  • No statistically significant differences were observed in urinary CR:creatinine or GAA:creatinine between children with ASD and controls.
  • This indicates that CDS is likely a rare condition within the studied ASD cohort.

Conclusions:

  • Routine screening for abnormal urinary CR and GAA is not supported by this study for the general ASD population.
  • While CDS may present similarly to ASD, its prevalence in ASD cohorts appears to be low.

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